Canonical Allele Identifier: CA259533

Gene: GALT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649452G>A , CM000671.2:g.34649452G>A	GRCh38
NC_000009.11:g.34649449G>A , CM000671.1:g.34649449G>A	GRCh37
NC_000009.10:g.34639449G>A	NCBI36
NG_009029.1:g.7815G>A
NG_028966.1:g.2268G>A
NG_009029.2:g.7864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*535G>A	ENSP00000509954.1:n.*535G>A
ENST00000378842.8:c.947G>A MANE Select	ENSP00000368119.4:p.Trp316Ter
ENST00000378842.7:c.947G>A	ENSP00000368119.3:p.Trp316Ter
ENST00000450095.6:c.620G>A	ENSP00000401956.2:p.Trp207Ter
ENST00000488412.2:n.531G>A
ENST00000489643.6:n.1355G>A
ENST00000554550.5:c.*567G>A	ENSP00000451435.1:n.*567G>A
ENST00000554638.5:n.1419G>A
ENST00000555020.5:n.1736G>A
ENST00000555754.1:n.395G>A
ENST00000556278.1:c.432+996G>A	ENSP00000451792.1:n.432+996G>A
ENST00000557706.5:n.1522G>A
NM_000155.3:c.947G>A	NP_000146.2:p.Trp316Ter
NM_001258332.1:c.620G>A	NP_001245261.1:p.Trp207Ter
NM_000155.4:c.947G>A MANE Select	NP_000146.2:p.Trp316Ter
NM_001258332.2:c.620G>A	NP_001245261.1:p.Trp207Ter